Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation

Vincenzo La Bella, Rossella Spataro, Jennifer Schymick, Irene Ossola, Maura Brunetti, Maria Rosaria Monsurrò, Andrea Calvo, Jessica Mandrioli, Stefania Battistini, Bryan J. Traynor, Mario Sabatelli, Gabriella Restagno, Andrea Calvo, Adriano Chiò, Fabrizio Salvi, Gabriele Mora

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111 Citazioni (Scopus)


Recently, fused in sarcoma/translated in liposarcoma (FUS/TLS) gene, located on chromosome 16p11.2, has been identified as a disease gene in familial amyotrophic lateral sclerosis (FALS). We have analyzed FUS/TLS in a cohort of 52 index cases from seven Italian regions with non-SOD1 and non-TARDBP FALS. We identified a heterozygous c.G1542C missense mutation in a family of northern Italian origin, and a heterozygous c.C1574T missense mutation in a family of Sicilian origin. Both variants are located in exon 15 encoding the RNA-recognition motif, and result in a substitution of an arginine with a serine in position 514 (p.R514S) and substitution of a proline with a leucine at position 525 (p.P525L), respectively. Overall, the two mutations accounted for 3.8% of 52 non-SOD1 and non-TDP43 index cases of FALS. The clinical phenotype was similar within each of the families, with a predominantly upper limb onset in the family carrying the p.R514S mutation and bulbar onset, with very young age and a rapid course in the family carrying the p.P525L mutation.
Lingua originaleEnglish
pagine (da-a)1272-1275
Numero di pagine4
RivistaNeurobiology of Aging
Stato di pubblicazionePublished - 2009

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.1300.1302???
  • ???subjectarea.asjc.2700.2728???
  • ???subjectarea.asjc.1300.1309???
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